TITLE:
Sturge Weber Syndrome Revealed by Severe Generalized Gingival Enlargement in a 12-Year-Old Patient: A Case Report
AUTHORS:
Kaoutar El Khalifa, Mounia El Bouhairi, Salma Adnane, Lamia Kissi
KEYWORDS:
Sturge Weber Syndrome, Gingival Overgrowth, Oral Manifestations, Vascular Epulis, Port-Wine Stain, Leptomeningeal Angiomatosis, Pediatric Dentistry, Oral Surgery, Multidisciplinary Care
JOURNAL NAME:
Open Access Library Journal,
Vol.13 No.3,
March
23,
2026
ABSTRACT: Background: Sturge Weber syndrome (SWS) is a rare, sporadic neurocutaneous disorder caused by somatic mutations in the GNAQ gene, characterized by vascular malformations involving the skin, leptomeninges, and eyes. Although facial port-wine stains, seizures, and ocular abnormalities are the hallmark features, oral manifestations are less frequently reported and may represent an early clinical sign of the disease. Case Presentation: We report the case of a 12-year-old girl who presented with progressive generalized gingival enlargement associated with spontaneous bleeding and functional impairment. Clinical examination revealed bilateral facial port-wine stains extending to the trunk and limbs, facial asymmetry, and intraoral diffuse hypervascular gingival proliferations affecting all quadrants. Radiographic evaluation showed horizontal bone loss of the mandibular incisors. Multidisciplinary assessment, including dermatology, neurology, and ophthalmology, supported the diagnosis of SWS, which was confirmed by brain magnetic resonance imaging demonstrating leptomeningeal angiomatosis, consistent with SWS type I. Initial management included periodontal therapy, surgical excision of gingival lesions, and tooth extractions under strict hemorrhagic precautions. Histopathological examination revealed a vascular epulis. Despite initial improvement, the patient presented two years later with a severe recurrence of gingival overgrowth, likely related to antiepileptic therapy and inadequate oral hygiene, necessitating referral for comprehensive surgical management. Conclusion: This case emphasizes that vascular gingival overgrowth may represent an early and revealing manifestation of SWS. Dentists play a key role in the early detection of systemic vascular disorders through careful oral examination, enabling timely multidisciplinary diagnosis and management while minimizing hemorrhagic risks.